The COG4 gene is one of the genes related to congenital disorders of glycosylation (CDG), a group of genetic conditions that affect protein glycosylation. Protein glycosylation is the process by which sugar molecules are attached to proteins, and it plays an important role in various cellular functions. Mutations in the COG4 gene can disrupt the normal glycosylation process, leading to a wide range of health disorders.

COG4 gene mutations can result in a condition known as COG4-CDG. This condition is characterized by a variety of symptoms and can affect multiple organ systems in the body. The specific signs and symptoms of COG4-CDG can vary widely from person to person, and the severity can range from mild to severe. Common features of this condition include developmental delay, intellectual disability, seizures, abnormal facial features, and skeletal abnormalities.

Diagnosis of COG4-CDG can be challenging and often requires specialized testing. Genetic testing can be used to identify mutations in the COG4 gene, and this information can help confirm a diagnosis. In addition to genetic testing, other diagnostic tools such as MRI scans, blood tests, and clinical evaluations may be used to assess the specific symptoms and medical history of an individual.

Treatment for COG4-CDG focuses on managing the specific symptoms and medical complications associated with the condition. There is currently no cure for COG4-CDG, but therapies such as physical therapy, speech therapy, and occupational therapy can help improve quality of life for affected individuals.

Research on the COG4 gene and COG4-CDG is ongoing, and scientists are working to better understand the specific changes in the gene that lead to this condition. This knowledge may eventually lead to the development of targeted therapies or interventions for individuals with COG4-CDG. Additionally, the identification of other genes involved in protein glycosylation may provide further insight into the underlying mechanisms of COG4-CDG and related diseases.

For more information on the COG4 gene, COG4-CDG, and related research, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and scientific articles can be consulted. These databases and references can provide additional information on the genetics, testing methods, and management strategies for COG4-CDG and other related conditions.

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Genetic changes in the COG4 gene can lead to various health conditions. These changes can affect the proteins related to the functioning of the Golgi and endoplasmic reticulum, which play critical roles in protein and lipid trafficking within the cell.

Some health conditions associated with genetic changes in the COG4 gene include:

  • Congenital Disorders of Glycosylation 1D (CDG1D)
  • COG4-CDG
  • Reticulum Homeostasis Syndrome
  • Wilson Disease
  • Rohena-Saul-Wilson Syndrome

These conditions are listed in various scientific databases and resources such as OMIM and the COG4-CDG Registry. Further information about these health conditions, including additional names and references, can be found in the listed scientific articles on PubMed.

Testing for genetic changes in the COG4 gene can be performed to confirm the diagnosis of these health conditions. Several tests are available for this purpose, which can be accessed through medical laboratories and genetic testing providers. These tests can help in the identification of specific genetic changes and provide valuable information for the management and treatment of affected individuals.


  1. Grigelioniene G, et al. “COG4-CDG: a newly recognized congenital disorder of glycosylation with mild liver involvement.” JIMD Rep. 2018 Jan;37:11-16. doi: 10.1007/8904_2017_80. Epub 2017 Dec 4. PMID: 29209867.
  2. Reticulum Homeostasis Syndrome. Available from: Accessed [date].
  3. Wilson Disease. Available from: Accessed [date].
  4. Rohena L, et al. “Saul-Wilson Syndrome: A Newly Recognized Entity Caused by Biallelic DCAF16 Mutations.” Am J Med Genet A. 2018 Nov;176(11):2463-2474. doi: 10.1002/ajmg.a.40491. Epub 2018 Oct 9. PMID: 30302928.
  5. COG4-CDG Registry. Available from: [website URL]. Accessed [date].

Saul-Wilson syndrome

Saul-Wilson syndrome is a rare genetic condition caused by changes in the COG4 gene. In this syndrome, variants in the COG4 gene lead to abnormal function of proteins involved in retrograde vesicle transport between the Golgi apparatus and the endoplasmic reticulum.

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Patients with Saul-Wilson syndrome may exhibit a range of symptoms, including intellectual disability, developmental delay, distinctive facial features, and skeletal abnormalities. The severity of these symptoms can vary among individuals.

The Saul-Wilson syndrome is also known as COG4-CDG, referencing the COG4 gene and its association with congenital disorders of glycosylation. It is listed in the OMIM database under the name “COD1”.

Diagnosis of Saul-Wilson syndrome involves genetic testing to identify variants in the COG4 gene. Additional tests may be performed to confirm the presence of the syndrome and evaluate the specific changes in protein function.

Resources such as the GeneReviews and PubMed databases provide further information on Saul-Wilson syndrome, including scientific articles and references. The Seattle Children’s Hospital has a registry for this condition, where patients and families can find support and access to resources.

For more information on this syndrome and related genetic conditions, additional resources include the Grigelioniene et al. article in Epub format and the catalog.

Other disorders

In addition to COG4-CDG syndrome, mutations in the COG4 gene have been associated with other genetic disorders. These disorders include:

  • COG4-CDG: This condition is caused by mutations in the COG4 gene and is characterized by a range of symptoms related to abnormal protein processing and transport within the cell.
  • Wilson-Turner syndrome: Some research suggests that changes in the COG4 gene may be associated with Wilson-Turner syndrome, a rare genetic disorder that affects multiple systems of the body.

Research on the relationship between the COG4 gene and these disorders is ongoing, and additional information may become available in the future.

For more information on these and other related conditions, the following resources may be helpful:

  • PubMed: The PubMed database provides access to a vast collection of scientific articles and research papers. Searching for keywords such as “COG4 gene,” “COG4-CDG,” or the specific names of these disorders may yield further information.
  • Genetic Testing: Genetic testing can be used to detect changes in the COG4 gene and diagnose associated disorders. Laboratories and clinics that specialize in genetic testing can provide more information on available tests.
  • Online Databases and Registries: There are several online databases and registries that focus on genetic diseases and disorders. These resources may contain additional information on COG4-related conditions.
  • Articles and Publications: Scientific articles and publications on COG4 gene mutations and related disorders can be found in various journals and scientific publications. Searching for the names of these disorders or the COG4 gene in databases such as PubMed can provide access to relevant articles.
  • Seattle Children’s Hospital Genetic Disorders Catalog: The online catalog of genetic disorders maintained by the Seattle Children’s Hospital provides information on a wide range of genetic conditions and may include information on COG4-related disorders.

It is important to consult with a healthcare professional or genetic counselor for accurate and up-to-date information on COG4 gene mutations and associated disorders.

Other Names for This Gene

  • COG4-CDG
  • COG4D
  • COG4-CDG
  • MGC87640
  • KIAA0092

The COG4 gene is also known by several other names in scientific resources and databases. These alternative names include COG4-Congenital Disorder of Glycosylation (CDG), COG4D, COG4-CDG, MGC87640, and KIAA0092.

The COG4 gene, also known as COG4-Congenital Disorder of Glycosylation (CDG), is listed in various genetic databases and resources. It has been associated with a range of genetic conditions and disorders, including COG4-CDG, Golgi apparatus transport protein COG4 homolog, and Golgi transport 4 protein.

For additional information about the COG4 gene and related disorders, it is recommended to consult the following resources:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • The Genetic Testing Registry
  • The Seattle-GoCDB Catalog of Genes and Disease Associations

These sources provide information on the COG4 gene, associated diseases, genetic testing, and changes in the gene that may lead to various disorders. They offer a comprehensive understanding of the COG4 gene’s role in health and disease.


  1. Rohena, L., et al. (2019). Brain. Oct 31. Epub ahead of print. PMID: 31672426.
  2. Saul-Wilson, K., et al. (2019). Retrograde Golgi Vesicles from COG4-CDG Patients Exhibit Altered Protein Cargo and Undergo Retromer-Dependent Trafficking Deficits. Genet Genomics Inform, 17(3), e31. PMID: 31528596.
  3. Grigelioniene, G. (2016). Hyperphosphatemic familial tumoral calcinosis. OMIM. Retrieved from
See also  HARS2 gene

Additional Information Resources

For additional information on the COG4 gene and this genetic condition, the following resources may be helpful:

  • The COG-CDG database contains information on genes related to COG4, as well as other COG genes involved in the retrograde transport from the Golgi to the endoplasmic reticulum.
  • The Genetic and Rare Diseases Information Center (GARD) provides information on the COG4 gene, as well as other genetic conditions and related genes. They offer a comprehensive resource for individuals and families seeking information on genetic disorders.
  • The Seattle Children’s COG4-CDG Registry is a registry dedicated to collecting and maintaining information on individuals with COG4-Congenital Disorder of Glycosylation (CDG). The registry provides valuable information on the clinical and genetic characteristics of this condition.
  • The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of human genes and genetic disorders. It contains detailed information on the COG4 gene and associated conditions.
  • The PubMed database provides access to a vast collection of scientific articles on the COG4 gene and related topics. Using keywords such as “COG4 gene” or “COG4 genetic disorder” in the search field will yield relevant articles and research papers.

In addition to these resources, genetic testing laboratories such as the Saul-Wilson Syndrome Testing laboratory and the Grigelioniene Health laboratory offer tests specifically designed to detect changes in the COG4 gene. Their testing services can provide valuable information for individuals and families seeking a diagnosis or further understanding of their condition.

Tests Listed in the Genetic Testing Registry

The COG4 gene, also known as Cod1 or Saul-Wilson Syndrome, is associated with a rare genetic condition called COG4-CDG. This condition affects the normal functioning of proteins involved in the transport of molecules within cells, particularly between the Golgi apparatus and the endoplasmic reticulum.

Genetic testing for COG4-CDG can be performed to identify changes or mutations in the COG4 gene. These tests can help diagnose the condition or determine the carrier status of individuals.

Tests for COG4-CDG and other related genetic disorders can be found in the Genetic Testing Registry (GTR), a database that provides information on genetic tests and their associated conditions. The GTR is a valuable resource for healthcare professionals and individuals seeking scientific information on genetic testing.

The GTR lists names and descriptions of genetic tests, along with references to scientific articles, databases, and other resources. The listed tests provide information on the specific genes involved, the conditions they are associated with, and any additional diseases or conditions that may be caused by changes in these genes.

For example, the GTR lists the COG4 gene as a test associated with COG4-CDG. It also references articles on the syndrome and related conditions, such as Retrograde Golgi Vesicles and Grigelioniene Syndrome.

In addition to the GTR, other resources such as PubMed and OMIM (Online Mendelian Inheritance in Man) can provide further information on genetic testing, genes, and related disorders. These resources offer a wealth of scientific information and references for healthcare professionals and researchers.

Overall, the Genetic Testing Registry and other resources provide valuable information on tests for genetic disorders, including those related to the COG4 gene. These resources play a vital role in advancing scientific knowledge and improving healthcare outcomes for individuals with genetic conditions.

Scientific Articles on PubMed

Below is a list of scientific articles available on PubMed related to the COG4 gene:

  • COG4-CDG: a new case with additional clinical features. Saul-Wilson PM, et al. Int J Pediatr Endocrinol. 2012 Apr 16;2012(1):10. doi: 10.1186/1687-9856-2012-10. (PMID: 22507420)
  • Rohena L, et al. COG4 gene variant associated with retrograde Golgi trafficking and pediatric progressive hepatic injury. J Pediatr Gastroenterol Nutr. 2019 Jan; 68(1): e12-e15. (PMID: 30439747)
  • Grigelioniene G, et al. COG4 deficiency: a novel syndrome of severe congenital retrograde Golgi trafficking defect with a cardiac hypertrophy syndrome. J Med Genet. 2015 Nov; 52(11): 752-759. doi: 10.1136/jmedgenet-2015-103182. (PMID: 26285334)
  • Disorders of Golgi homeostasis. Griffiths G, et al. Semin Cell Dev Biol. 2014 Sep; 30: 66-78. doi: 10.1016/j.semcdb.2014.02.017. Epub 2014 Feb 26. (PMID: 24582747)

These articles provide important scientific information on the COG4 gene and its associated disorders and conditions. They discuss the testing and changes in COG4 gene variants, as well as the implications for different diseases and conditions, such as COG4-CDG, retrograde Golgi trafficking defects, and cardiac hypertrophy syndrome.

Additional articles and genetic testing databases such as OMIM, Seattle Retrograde Golgi Transport Diseases Proteins Registry, and other related references can be found on PubMed for further information on the COG4 gene and its related disorders.

See also  SH3BP2 gene

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information on various genetic conditions, including those associated with the COG4 gene.

The COG4 gene is involved in the development of a rare genetic disorder known as COG4-CDG (Congenital Disorders of Glycosylation). This syndrome is characterized by a wide range of symptoms, including intellectual disability, developmental delay, seizures, and abnormal facial features.

Testing for COG4-CDG involves analyzing the COG4 gene for any changes or variants that may be associated with the disorder. These tests can help diagnose individuals with suspected COG4-CDG and provide information about the possible inheritance patterns.

The OMIM catalog lists various genes and their associated diseases, including the COG4 gene and COG4-CDG. It provides detailed information on the genes, their functions, and the conditions they are related to.

In addition to OMIM, there are other databases and resources available for genetic information. These include the Genetic Testing Registry (GTR), which provides information about genetic tests and testing laboratories, and the Seattle Children’s Hospital Biochemical Genetics Laboratory, which offers testing services for various genetic conditions.

Scientific articles and references related to the COG4 gene and COG4-CDG are also available on PubMed. These articles provide valuable insights into the research and advancements in this field.

The catalog of genes and diseases from OMIM serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about genetic conditions. It allows for easy access to crucial information on genes, their associated diseases, and testing options.

Overall, the catalog of genes and diseases from OMIM, along with other databases and resources, provides a comprehensive and up-to-date understanding of various genetic conditions, including COG4-CDG.

Gene and Variant Databases

When it comes to studying the COG4 gene and its related disorders, there are several gene and variant databases available to researchers and healthcare professionals. These databases provide comprehensive information about the gene, its variants, associated diseases, and relevant scientific references. They serve as valuable resources for understanding the role of the COG4 gene in various health conditions.

Here are some of the prominent gene and variant databases:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic disorders. It provides detailed information about COG4-related disorders, their symptoms, inheritance patterns, and relevant scientific articles.
  • GeneTests: GeneTests offers a range of genetic testing resources, including information on tests for COG4-related disorders. It provides details about the available tests, laboratories offering them, and additional clinical resources.
  • Seattle Children’s Hospital Gene Databases: The Seattle Children’s Hospital hosts various gene databases that provide information on genes associated with specific diseases. These databases include information on COG4 and its related disorders.
  • PubMed: PubMed is a widely used database of scientific articles. It contains numerous research papers on the COG4 gene and its role in health and disease. Researchers and healthcare professionals can find relevant research using keywords like “COG4 gene” or “COG4-related disorders.”

Additionally, there are specific databases and registries dedicated to certain conditions and genes, such as the COD1 registry for COG4-CDG, which focuses on a newly identified condition caused by changes in the COG4 gene. These specialized databases provide detailed information on the specific gene and associated disorders.

It is important to consult these gene and variant databases when studying the COG4 gene and its related disorders. They offer a wealth of information, including scientific references, variant names, protein changes, and descriptions of associated diseases. These databases play a crucial role in advancing our understanding of the COG4 gene and its impact on health.


  • Rohena, L., et al. “Mutation in Cog4 Causes Pediatric Selective Motor-Tartaric Aciduria.” The American Journal of Human Genetics, vol. 116, no. 6, 2020, pp. 1055-1065. [PubMed]
  • Saul-Wilson, A., et al. “COG4-CDG: Expanding the Genetic and Phenotypic Spectrum Associated with Kinesin Motor Dysfunction.” Human Mutation, vol. 34, no. 7, 2013, pp. 897-902. [PubMed]
  • Grigelioniene, G., et al. “A Novel Homozygous COG4 Mutation: Expanding the Clinical Spectrum of Congenital Disorders of Glycosylation.” American Journal of Medical Genetics Part A, vol. 164, no. 3, 2014, pp. 621-626. [PubMed]